The story of Ruby
By sharing Ruby’s story we are raising awareness for the rare disease community and giving a narrative to this disease you would most likely not know anything about.
When Ruby was born she had a little bump on her ear that the dr’s thought was a skin tag but later on confirmed it was in fact a small cartilage tumour. At 6 weeks we noticed a tiny bump on her rib cage that we were told was likely some extra bone and wasn’t anything to worry about. This was followed up when she was 18 months with scans which confirmed it was an exostosis/osteochondroma (benign bone tumour). At 18 months of age Ruby had surgery to remove the tiny tumour from her ear/side of her face.
We thought this was the end however when Ruby was 3 years old I found a very large bump that appeared on her leg. Through X-ray and MRI and a very concerning 3 week wait it was then Ruby was diagnosed with Multiple Hereditary Exostoses (MHE). Normally MHE is directly inherited from a parent, but in Ruby’s case it is a spontaneous genetic mutation so she is the first. Those scans at 3 years old showed multiple tumours growing in both legs mostly around the knee joint which had started to cause pain for Ruby.
From that point forward, Ruby has had many appointments with X-rays including whole skeletal surveys which shows tumours on nearly every long and flat bone in her body, so many that they don’t count them. As Ruby grows, the tumours grow, as some of the tumours continue to grow, the bone doesn’t lengthen meaning for Ruby in her left arm, her radial bone is bowing because the ulna bone is shorter. This may need corrective surgery in the future.
Some of the tumours are large enough to impact the nerves and tendons. This causes chronic pain which is really hard to manage.
Some days it’s hard for her to weight bare and walk. She can’t sit with all the other kids for too long as it becomes too painful.
She has reduced range of motion in both wrists with tumours impacting both arms and hands which means even writing at school, using utensils is fatiguing and painful.
There is no cure, only symptom management and corrective surgery. In 2021 the pain caused by the tumours in her left leg was bad enough to need surgery so at the age of just 7 she had a major surgery to remove two tumours. The largest one couldn’t simply be cut out, they had to shave the bone tumour down to remove it. This caused immense pain and recovery from this was the hardest thing we have been through. Ruby was in a wheelchair for nearly 3 months and had to work very hard to get the strength back in her legs.
Chronic pain in a child is really difficult to manage. It impacts her school life… it impacts her sleep but we try our best with heat packs, analgesia, distraction techniques, meditation, art….. she has good days and bad days, she is stronger and braver than me, she puts on a pretty tough front most days and we are so incredibly proud of her resilience.
It will be a lifetime of management, we don’t have all the answers but we are learning along the way, the most important thing is we will always do it together for our girl, our MHE warrior.